| HRA003263
(Controlled Access)
|
E-cadherin (CDH1) and alpha-E-catenin gene (CTNNA1) were previously identified as hereditary diffuse gastric cancer (HDGC) susceptibility genes, explaining 25-50% of the HDGC cases. The genetic basis underlying disease susceptibility in the remaining 50-75% of HDGC patients is still illusive. Our study provided the genetic landscape for HDGC. We challenged the previous high germline mutation rate of CDH1 in HDGC and reported new potential susceptibility genes. Mutational signature and double-hit events analysis uncovered critical mechanism for HDGC tumorigenesis. The present study provided helpful information for the further investigations of HDGC. |
